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Volume 42; Issue 1
Main
Clinical Genetics
Volume 42; Issue 1
Clinical Genetics
Volume 42; Issue 1
1
Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases
M. Röyttä
,
A. S. Fagerlund
,
S. Toikkanen
,
T. T. Salmi
,
L. B. Jorde
,
H. R. Forsius
,
A. W. Eriksson
Journal:
Clinical Genetics
Year:
1992
Language:
english
File:
PDF, 964 KB
Your tags:
english, 1992
2
Linkage analysis in properdin deficiency families: refined location in proximal Xp
Claes Wadelius
,
Maritta Pigg
,
Mats Sundvall
,
Anders G. Sjöholm
,
Ponmani Goonewardena
,
Ed J. Kuijper
,
Cees C. Tijssen
,
Anton Jansz
,
Peter J. Späth
,
Ulf B. Schaad
,
Lisbeth Tranebjaerg
,
Hans E. Nielsen
,
Journal:
Clinical Genetics
Year:
1992
Language:
english
File:
PDF, 419 KB
Your tags:
english, 1992
3
Consanguineous marriages among parents of Down patients
Nurettin Başaran
,
A. Cenani
,
B. S. Şayli
,
C. Özkinay
,
S. Artan
,
H. Seven
,
A. Başaran
,
S. Dinçer
Journal:
Clinical Genetics
Year:
1992
Language:
english
File:
PDF, 282 KB
Your tags:
english, 1992
4
Congenital hypertrophy of retinal pigment epithelium in patients with colonic polyps associated with cancer family syndrome
R. S. Houlston
,
T. Fallon
,
C. Harocopos
,
C. B. Williams
,
C. Davey
,
J. Slack
Journal:
Clinical Genetics
Year:
1992
Language:
english
File:
PDF, 229 KB
Your tags:
english, 1992
5
Congenital heart defects, hamartomas of the tongue and polysyndactyly in a sister and brother
Karen Helene Örstavik
,
Ralf Lindemann
,
Lars Åge Solberg
,
Arnold Foerster
,
Svein Jan Sørland
Journal:
Clinical Genetics
Year:
1992
Language:
english
File:
PDF, 359 KB
Your tags:
english, 1992
6
A fragile X family with high penetrance in females: risk heterogeneity?
Francisco Martínez
,
Lourdes Badía
,
Félix Prieto
Journal:
Clinical Genetics
Year:
1992
Language:
english
File:
PDF, 558 KB
Your tags:
english, 1992
7
Amyloidogenic and non-amyloidogenic transthyretin Asn 90 variants
I. L. Alves
,
M. R. Almeida
,
J. Skare
,
M. Skinner
,
K. Kurose
,
Y. Sakaki
,
P. P. Costa
,
M. J. M. Saraiva
Journal:
Clinical Genetics
Year:
1992
Language:
english
File:
PDF, 432 KB
Your tags:
english, 1992
8
Time of pubertal onset, testosterone levels and intelligence in 47,XXY males
C. Netley
Journal:
Clinical Genetics
Year:
1992
Language:
english
File:
PDF, 317 KB
Your tags:
english, 1992
9
Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier
Francesco Muntoni
,
Anna Mateddu
,
Maria Giovanna Marrosu
,
Miiena Cau
,
Rita Congiu
,
Maria Antonietta Melis
,
Antonio Cao
,
Carlo Cianchetti
Journal:
Clinical Genetics
Year:
1992
Language:
english
File:
PDF, 339 KB
Your tags:
english, 1992
10
Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis Type II — a family study
Tatsuo Yoneyama
,
Hilton L. Fowler
,
John W. Pendleton
,
Peter P. Sforza
,
Roy D. Gerard
,
Charles Y. Lui
,
Thomas H. Eldridge
,
All Iranmanesh
Journal:
Clinical Genetics
Year:
1992
Language:
english
File:
PDF, 472 KB
Your tags:
english, 1992
11
DNA screening of hyperlipidemic Afrikaners for familial hypercholesterolemia
M. J. Kotze
,
E. Langenhoven
,
J. A. Kriek
,
C. J. J. Oosthuizen
,
A. E. Retief
Journal:
Clinical Genetics
Year:
1992
Language:
english
File:
PDF, 413 KB
Your tags:
english, 1992
12
Confirmation of true mosaic trisomy 20 in a phenotypically normal liveborn male
Arthur R. Brothman
,
Kimberly Rehberg
,
Patrick D. Storto
,
Susan E. Phillips
,
Robert T. Mosby
Journal:
Clinical Genetics
Year:
1992
Language:
english
File:
PDF, 267 KB
Your tags:
english, 1992
13
Pitted enamel hypoplasia in tuberous sclerosis
J. R. Sampson
,
D. Attwood
,
A. S. Al Mughery
,
J. S. Reid
Journal:
Clinical Genetics
Year:
1992
Language:
english
File:
PDF, 250 KB
Your tags:
english, 1992
14
DNA deletion in patients with von Recklinghausen neurofibromatosis
T. Kamei
,
Y. Fukushima
,
A. Shibata
,
Y. Hayashi
,
N. Tachibana
,
I. Takeda
,
N. Niikawa
,
F. S. Collins
,
K. Takahashi
,
S. Masumura
Journal:
Clinical Genetics
Year:
1992
Language:
english
File:
PDF, 163 KB
Your tags:
english, 1992
15
Autism and ring chromosome 18 mosaicism
Jean-Pierre Fryns
,
Alice Kleczkowska
Journal:
Clinical Genetics
Year:
1992
Language:
english
File:
PDF, 72 KB
Your tags:
english, 1992
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